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CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy
CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the f...
Autores principales: | Jakimiec, Martyna, Paprocka, Justyna, Śmigiel, Robert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071516/ https://www.ncbi.nlm.nih.gov/pubmed/32079229 http://dx.doi.org/10.3390/brainsci10020107 |
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